Incidental Mutation 'R5567:Plb1'
ID 436908
Institutional Source Beutler Lab
Gene Symbol Plb1
Ensembl Gene ENSMUSG00000029134
Gene Name phospholipase B1
Synonyms 4632413E21Rik, 4930433E17Rik, 4930539A06Rik
MMRRC Submission 043124-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R5567 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 32390035-32521700 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32521543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1465 (T1465A)
Ref Sequence ENSEMBL: ENSMUSP00000144040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101376] [ENSMUST00000202220]
AlphaFold Q3TTY0
Predicted Effect unknown
Transcript: ENSMUST00000101376
AA Change: T1465A
SMART Domains Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: T1465A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 57 69 N/A INTRINSIC
Pfam:Lipase_GDSL 398 672 4e-20 PFAM
Pfam:Lipase_GDSL 745 1019 1.7e-17 PFAM
Pfam:Lipase_GDSL 1101 1367 4.6e-15 PFAM
transmembrane domain 1420 1442 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140191
AA Change: *191W
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144245
AA Change: D206G
Predicted Effect unknown
Transcript: ENSMUST00000202220
AA Change: T1465A
SMART Domains Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: T1465A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 57 69 N/A INTRINSIC
Pfam:Lipase_GDSL 398 672 4e-20 PFAM
Pfam:Lipase_GDSL 745 1019 1.7e-17 PFAM
Pfam:Lipase_GDSL 1101 1367 4.6e-15 PFAM
transmembrane domain 1420 1442 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202687
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 C T 6: 86,932,150 (GRCm39) Q374* probably null Het
Adam19 A G 11: 46,027,077 (GRCm39) D570G probably damaging Het
Aqr G A 2: 113,979,451 (GRCm39) T328M probably damaging Het
Bltp3b T A 10: 89,644,383 (GRCm39) M29K probably benign Het
Boc G A 16: 44,313,187 (GRCm39) T559I probably damaging Het
Cadps A T 14: 12,473,497 (GRCm38) I876N possibly damaging Het
Cdh9 A G 15: 16,855,930 (GRCm39) T657A probably damaging Het
Cep104 T C 4: 154,086,734 (GRCm39) S794P possibly damaging Het
Cep72 T C 13: 74,188,260 (GRCm39) Q211R probably benign Het
Coq6 T A 12: 84,415,413 (GRCm39) D145E probably benign Het
Crym T C 7: 119,801,116 (GRCm39) E11G probably benign Het
Csmd3 A T 15: 47,508,864 (GRCm39) M2907K possibly damaging Het
Cspg4 A C 9: 56,793,932 (GRCm39) I556L probably benign Het
Cwf19l2 T A 9: 3,456,831 (GRCm39) D721E probably damaging Het
Defb36 T A 2: 152,454,503 (GRCm39) V54E probably damaging Het
Dlg5 C A 14: 24,242,981 (GRCm39) E55* probably null Het
Dna2 G T 10: 62,802,452 (GRCm39) A857S possibly damaging Het
E330034G19Rik A G 14: 24,346,892 (GRCm39) K60E possibly damaging Het
Eps8l2 G A 7: 140,934,920 (GRCm39) R76Q possibly damaging Het
Fbxl18 A G 5: 142,881,022 (GRCm39) probably benign Het
Flnc T A 6: 29,444,044 (GRCm39) C619* probably null Het
Ftcd A G 10: 76,423,967 (GRCm39) K503E probably benign Het
Gbp2b C T 3: 142,317,126 (GRCm39) A494V possibly damaging Het
Gfral C T 9: 76,115,900 (GRCm39) A25T probably benign Het
Gins2 T A 8: 121,315,684 (GRCm39) D24V possibly damaging Het
Gm10985 T C 3: 53,752,683 (GRCm39) I22T probably damaging Het
Golga4 T A 9: 118,387,251 (GRCm39) S1458T probably damaging Het
Gpatch1 T C 7: 35,006,640 (GRCm39) K176R probably damaging Het
Gsto1 T C 19: 47,846,338 (GRCm39) W62R probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Gxylt1 A G 15: 93,152,180 (GRCm39) probably null Het
Hs6st1 C T 1: 36,142,719 (GRCm39) P218L probably benign Het
Itpr3 C T 17: 27,322,880 (GRCm39) T1119M possibly damaging Het
Kif5c A G 2: 49,620,211 (GRCm39) D226G possibly damaging Het
Klk1b1 T A 7: 43,620,593 (GRCm39) S228T probably damaging Het
Krt1 A G 15: 101,755,340 (GRCm39) F473S probably benign Het
Large1 A G 8: 73,564,081 (GRCm39) S562P possibly damaging Het
Lpxn T A 19: 12,810,023 (GRCm39) M265K possibly damaging Het
Lrriq1 G A 10: 103,006,457 (GRCm39) P1223S possibly damaging Het
Map3k9 A G 12: 81,778,798 (GRCm39) L505P possibly damaging Het
Morn2 A G 17: 80,604,709 (GRCm39) D128G probably damaging Het
Msl2 A G 9: 100,978,936 (GRCm39) K437E possibly damaging Het
Msr1 T C 8: 40,064,760 (GRCm39) I305V probably benign Het
Muc4 A G 16: 32,598,066 (GRCm39) E3237G possibly damaging Het
Mxra8 T C 4: 155,925,465 (GRCm39) M58T probably damaging Het
Myo16 A G 8: 10,372,676 (GRCm39) D125G probably damaging Het
Myom2 A G 8: 15,152,546 (GRCm39) Q631R probably benign Het
Nlrp1b T A 11: 71,072,229 (GRCm39) H538L probably benign Het
Nme3 T A 17: 25,115,823 (GRCm39) probably null Het
Nop2 T C 6: 125,110,726 (GRCm39) S68P probably benign Het
Nploc4 C T 11: 120,275,440 (GRCm39) V499M probably benign Het
Nub1 A G 5: 24,913,814 (GRCm39) E565G possibly damaging Het
Or1e19 C T 11: 73,316,272 (GRCm39) C179Y probably damaging Het
Or6e1 A G 14: 54,519,825 (GRCm39) F176L probably damaging Het
Or7e168 A G 9: 19,719,674 (GRCm39) D20G probably damaging Het
Or9g3 G A 2: 85,589,994 (GRCm39) S242F probably damaging Het
Parl A G 16: 20,101,762 (GRCm39) M90T probably damaging Het
Pelo T C 13: 115,226,152 (GRCm39) I102V probably benign Het
Pigt T A 2: 164,343,482 (GRCm39) Y319* probably null Het
Plxna4 T C 6: 32,134,915 (GRCm39) N1763D possibly damaging Het
Pmpca A G 2: 26,280,553 (GRCm39) E133G probably damaging Het
Pus7l G A 15: 94,425,746 (GRCm39) P552S probably benign Het
Qsox2 A G 2: 26,115,230 (GRCm39) M1T probably null Het
Ralb C T 1: 119,411,265 (GRCm39) V25I probably damaging Het
Rbbp6 A G 7: 122,601,057 (GRCm39) probably benign Het
Rnf43 A G 11: 87,618,271 (GRCm39) E187G probably damaging Het
Rpl31 C T 1: 39,409,108 (GRCm39) R41C probably benign Het
Scap A G 9: 110,206,712 (GRCm39) S386G probably damaging Het
Skint10 T C 4: 112,573,067 (GRCm39) Y243C probably damaging Het
Stpg2 A G 3: 139,125,547 (GRCm39) T447A probably benign Het
Tas1r1 G A 4: 152,122,782 (GRCm39) A21V probably damaging Het
Tas2r122 C T 6: 132,688,335 (GRCm39) G186E probably benign Het
Tenm4 C A 7: 96,545,416 (GRCm39) Y2477* probably null Het
Them7 A G 2: 105,209,153 (GRCm39) T158A probably benign Het
Tmcc2 A C 1: 132,285,543 (GRCm39) S608A probably benign Het
Ttc41 T C 10: 86,596,784 (GRCm39) probably null Het
Ttk T A 9: 83,744,588 (GRCm39) N593K possibly damaging Het
Tulp1 A G 17: 28,578,172 (GRCm39) V289A possibly damaging Het
Unc93a2 T C 17: 7,631,202 (GRCm39) T456A probably benign Het
Usp34 A C 11: 23,438,336 (GRCm39) Q278P probably damaging Het
Vmn2r78 T A 7: 86,570,737 (GRCm39) D418E probably benign Het
Vmn2r90 C T 17: 17,932,336 (GRCm39) A81V probably damaging Het
Xpc T A 6: 91,475,117 (GRCm39) N636I probably damaging Het
Zfp563 A T 17: 33,308,431 (GRCm39) probably benign Het
Other mutations in Plb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Plb1 APN 5 32,503,080 (GRCm39) missense probably benign 0.00
IGL00542:Plb1 APN 5 32,427,178 (GRCm39) missense probably benign 0.02
IGL00835:Plb1 APN 5 32,521,516 (GRCm39) missense unknown
IGL00954:Plb1 APN 5 32,455,858 (GRCm39) splice site probably benign
IGL01350:Plb1 APN 5 32,474,408 (GRCm39) missense probably damaging 1.00
IGL01527:Plb1 APN 5 32,474,467 (GRCm39) missense probably damaging 1.00
IGL01599:Plb1 APN 5 32,499,888 (GRCm39) splice site probably benign
IGL01690:Plb1 APN 5 32,471,041 (GRCm39) missense probably damaging 1.00
IGL01813:Plb1 APN 5 32,486,429 (GRCm39) missense probably damaging 1.00
IGL01826:Plb1 APN 5 32,438,489 (GRCm39) missense probably damaging 0.99
IGL02263:Plb1 APN 5 32,478,692 (GRCm39) splice site probably benign
IGL02314:Plb1 APN 5 32,438,492 (GRCm39) missense possibly damaging 0.93
IGL02649:Plb1 APN 5 32,519,912 (GRCm39) missense probably benign 0.09
IGL02701:Plb1 APN 5 32,521,541 (GRCm39) missense unknown
IGL02704:Plb1 APN 5 32,511,011 (GRCm39) missense probably benign 0.03
IGL03170:Plb1 APN 5 32,442,246 (GRCm39) missense probably damaging 0.99
IGL03182:Plb1 APN 5 32,502,259 (GRCm39) splice site probably benign
IGL03326:Plb1 APN 5 32,488,671 (GRCm39) missense probably benign 0.00
IGL03046:Plb1 UTSW 5 32,485,756 (GRCm39) missense probably damaging 1.00
R0013:Plb1 UTSW 5 32,506,959 (GRCm39) splice site probably benign
R0013:Plb1 UTSW 5 32,506,959 (GRCm39) splice site probably benign
R0034:Plb1 UTSW 5 32,430,457 (GRCm39) missense probably benign 0.16
R0034:Plb1 UTSW 5 32,430,457 (GRCm39) missense probably benign 0.16
R0330:Plb1 UTSW 5 32,512,701 (GRCm39) missense probably damaging 1.00
R0413:Plb1 UTSW 5 32,512,706 (GRCm39) missense probably damaging 1.00
R0721:Plb1 UTSW 5 32,521,539 (GRCm39) missense unknown
R0735:Plb1 UTSW 5 32,442,264 (GRCm39) missense possibly damaging 0.90
R1423:Plb1 UTSW 5 32,450,601 (GRCm39) missense probably benign
R1428:Plb1 UTSW 5 32,422,256 (GRCm39) missense possibly damaging 0.82
R1469:Plb1 UTSW 5 32,512,170 (GRCm39) missense possibly damaging 0.46
R1469:Plb1 UTSW 5 32,512,170 (GRCm39) missense possibly damaging 0.46
R1694:Plb1 UTSW 5 32,474,621 (GRCm39) missense probably null 0.01
R1801:Plb1 UTSW 5 32,450,587 (GRCm39) missense probably damaging 1.00
R1804:Plb1 UTSW 5 32,511,041 (GRCm39) missense possibly damaging 0.91
R1900:Plb1 UTSW 5 32,444,191 (GRCm39) missense probably benign 0.44
R1903:Plb1 UTSW 5 32,448,582 (GRCm39) missense probably damaging 1.00
R2101:Plb1 UTSW 5 32,507,004 (GRCm39) missense probably damaging 1.00
R2153:Plb1 UTSW 5 32,471,433 (GRCm39) missense probably damaging 1.00
R2207:Plb1 UTSW 5 32,473,984 (GRCm39) missense possibly damaging 0.50
R2270:Plb1 UTSW 5 32,450,586 (GRCm39) missense probably damaging 1.00
R2271:Plb1 UTSW 5 32,450,586 (GRCm39) missense probably damaging 1.00
R2311:Plb1 UTSW 5 32,427,162 (GRCm39) missense probably benign 0.01
R2850:Plb1 UTSW 5 32,450,568 (GRCm39) missense probably benign
R3103:Plb1 UTSW 5 32,485,373 (GRCm39) missense possibly damaging 0.92
R4444:Plb1 UTSW 5 32,487,909 (GRCm39) missense probably benign 0.06
R4559:Plb1 UTSW 5 32,490,175 (GRCm39) missense probably damaging 0.99
R4577:Plb1 UTSW 5 32,404,901 (GRCm39) nonsense probably null
R4578:Plb1 UTSW 5 32,404,901 (GRCm39) nonsense probably null
R4739:Plb1 UTSW 5 32,507,023 (GRCm39) splice site probably null
R4747:Plb1 UTSW 5 32,507,003 (GRCm39) missense probably benign 0.08
R4806:Plb1 UTSW 5 32,447,196 (GRCm39) missense probably damaging 1.00
R5406:Plb1 UTSW 5 32,499,259 (GRCm39) missense probably damaging 1.00
R5574:Plb1 UTSW 5 32,487,291 (GRCm39) missense probably benign 0.13
R5588:Plb1 UTSW 5 32,487,293 (GRCm39) critical splice donor site probably null
R5619:Plb1 UTSW 5 32,490,841 (GRCm39) missense probably damaging 0.99
R5769:Plb1 UTSW 5 32,474,866 (GRCm39) missense probably benign 0.05
R6366:Plb1 UTSW 5 32,471,429 (GRCm39) missense possibly damaging 0.59
R6700:Plb1 UTSW 5 32,490,808 (GRCm39) missense probably damaging 0.99
R7162:Plb1 UTSW 5 32,507,007 (GRCm39) missense probably benign 0.30
R7379:Plb1 UTSW 5 32,502,983 (GRCm39) missense probably damaging 1.00
R7395:Plb1 UTSW 5 32,511,028 (GRCm39) missense probably benign 0.30
R7426:Plb1 UTSW 5 32,478,591 (GRCm39) splice site probably null
R7643:Plb1 UTSW 5 32,404,901 (GRCm39) nonsense probably null
R7657:Plb1 UTSW 5 32,487,211 (GRCm39) missense probably damaging 0.98
R7780:Plb1 UTSW 5 32,483,610 (GRCm39) splice site probably null
R8040:Plb1 UTSW 5 32,430,413 (GRCm39) missense possibly damaging 0.89
R8212:Plb1 UTSW 5 32,422,250 (GRCm39) missense probably damaging 1.00
R8312:Plb1 UTSW 5 32,485,829 (GRCm39) missense probably damaging 1.00
R8560:Plb1 UTSW 5 32,460,023 (GRCm39) missense possibly damaging 0.95
R8770:Plb1 UTSW 5 32,404,853 (GRCm39) missense unknown
R8857:Plb1 UTSW 5 32,521,556 (GRCm39) missense unknown
R9029:Plb1 UTSW 5 32,439,079 (GRCm39) missense probably damaging 0.99
R9110:Plb1 UTSW 5 32,521,402 (GRCm39) missense probably benign 0.00
R9765:Plb1 UTSW 5 32,512,731 (GRCm39) missense probably damaging 1.00
X0018:Plb1 UTSW 5 32,443,227 (GRCm39) missense probably benign 0.01
X0019:Plb1 UTSW 5 32,511,041 (GRCm39) missense probably damaging 0.99
X0027:Plb1 UTSW 5 32,427,702 (GRCm39) missense probably benign
X0028:Plb1 UTSW 5 32,460,019 (GRCm39) missense probably damaging 1.00
Z1088:Plb1 UTSW 5 32,468,261 (GRCm39) missense probably benign
Z1088:Plb1 UTSW 5 32,468,191 (GRCm39) missense probably damaging 0.99
Z1177:Plb1 UTSW 5 32,442,241 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- ACACCCTCCGGAATAGTCAG -3'
(R):5'- CAGATAGTCTGCAGGTAACTCC -3'

Sequencing Primer
(F):5'- TAGTCAGCTTCTTCCAGACAAGG -3'
(R):5'- GTCTTTCAACAGAAGCCCAGAAG -3'
Posted On 2016-10-24